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1Academic Journal
المؤلفون: van Kleef, Esmee S.B., van de Camp, Sanne A.J.H., Groothuis, Jan T., Erasmus, Corrie E., Gaytant, Michael A., Vosse, Bettine A.H., de Weerd, Willemien, Verschuuren-Bemelmans, Corien C., Medici-Van den Herik, Evita G., Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, Voermans, Nicol C.
المصدر: van Kleef , E S B , van de Camp , S A J H , Groothuis , J T , Erasmus , C E , Gaytant , M A , Vosse , B A H , de Weerd , W , Verschuuren-Bemelmans , C C , Medici-Van den Herik , E G , Wallgren-Pettersson , C , Küsters , B , Schouten , M , van Engelen , B G M , Ottenheijm , C A C , Doorduin , J & Voermans , N C 2024 , ' A cross-sectional study in 18 patients with typical and ....
مصطلحات موضوعية: Cohort, Mild form, Nemaline myopathy, Trial readiness, Typical form
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/05ee99a5-f7db-48c5-9bba-bd8c0290695c
https://research.rug.nl/en/publications/05ee99a5-f7db-48c5-9bba-bd8c0290695c
https://doi.org/10.1016/j.nmd.2024.08.001
https://pure.rug.nl/ws/files/1140546058/1-s2.0-S0960896624009118-main.pdf
http://www.scopus.com/inward/record.url?scp=85201773267&partnerID=8YFLogxK -
2Academic Journal
المؤلفون: Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S.
المصدر: Smits , D J , Dekker , J , Douben , H , Schot , R , Magee , H , Bakhtiari , S , Koehler , K , Huebner , A , Schuelke , M , Darvish , H , Vosoogh , S , Tafakhori , A , Jameie , M , Taghiabadi , E , Wilson , Y , Shah , M , van Slegtenhorst , M A , Medici-van den Herik , E G , van Ham , T J , Kruer , M C & Mancini , G M S 2024 , ' Biallelic NDC1 ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/daeeca54-1f0b-408e-b8b4-2010548ac76f
https://doi.org/10.1016/j.xhgg.2024.100327
https://pure.eur.nl/ws/files/165046790/Biallelic_NDC1_variants_that_interfere_with_ALADIN_binding_are_associated_with_neuropathy_and_triple_A-like_syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85201270399&partnerID=8YFLogxK -
3Academic Journal
المؤلفون: van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, Voermans, Nicol C
المساهمون: Longziekten, Other research (not in main researchprogram)
مصطلحات موضوعية: Journal Article
وصف الملف: application/pdf
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4Electronic Resource
المؤلفون: Longziekten, Other research (not in main researchprogram), van Kleef, Esmee S B, van de Camp, Sanne A J H, Groothuis, Jan T, Erasmus, Corrie E, Gaytant, Michael A, Vosse, Bettine A H, de Weerd, Willemien, Verschuuren-Bemelmans, Corien C, Medici-Van den Herik, Evita G, Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G M, Ottenheijm, Coen A C, Doorduin, Jonne, Voermans, Nicol C
URL:
https://doi.org/10.1016/j.nmd.2024.08.001 http://hdl.handle.net/1874/455539
0960-8966
Neuromuscular Disorders
43
29
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5Academic Journal
المؤلفون: Lionarons, Judith M., de Groot, Imelda J.M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M.J., Vreugdenhil, Anita C.E., Medici-Van Den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-Van Attekum, Nicky, Feron, Frans J.M., Faber, Catharina G., Hendriksen, Jos G.M., Vles, Johan S.H.
المصدر: Lionarons , J M , de Groot , I J M , Fock , J M , Klinkenberg , S , Vrijens , D M J , Vreugdenhil , A C E , Medici-Van Den Herik , E G , Cuppen , I , Jaeger , B , Niks , E H , Hoogerhuis , R , Platte-Van Attekum , N , Feron , F J M , Faber , C G , Hendriksen , J G M & Vles , J S H 2021 , ' Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the ....
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6Electronic Resource
المؤلفون: Neurologen, Brain, Lionarons, Judith M., de Groot, Imelda J.M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M.J., Vreugdenhil, Anita C.E., Medici-Van Den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-Van Attekum, Nicky, Feron, Frans J.M., Faber, Catharina G., Hendriksen, Jos G.M., Vles, Johan S.H.